PRIMARY CARE
Recommendation 1
Specialist referrals, psychological and hormone therapy
48 XXXY syndrome
Not Verified
Disease overview
Non-inherited disorder characterized by the presence of 2 extra X chromosomes in males.
Common symptoms
Learning difficultiesintellectual disabilityhypotoniahypogonadismdelayed growthazoospermiaautisminfertilitypoor social skills and delayed language development.
WHEN TO SUSPECT
Recommendation 1
A diagnosis of 48,XXXY involves a special genetic test (commonly by blood after birth), typically either a karyotype or a microarray.
HOW TO TEST
Recommendation 1
A diagnosis of 48,XXXY involves a special genetic test (commonly by blood after birth), typically either a karyotype or a microarray.
TREATMENT
Recommendation 1
Testosterone-based hormone therapy
FURTHER SUPPORT
Recommendation 1
No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
CLINICAL TRIALS
Recommendation 1
One clinical trial currently recruiting
Sources
No data available
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